p.His9 His11del variant of SETD1B (Q9UPS6)
p.His9 His11del in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
p.His9 His11del variant details
- gnomAD 12-121804757-CCCA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 19.60
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available